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Article

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant.

American journal of medical genetics. Part A - 1 May 2026

Shojaat Shayla, Hale Benjamin, Warner Taylor

Abstract excerpt

Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease-causing only in homozygous individuals, with heterozygous carriers being unaffected. Presently, we discuss the case of an adolescent patient who presented for further evaluation of pre-syncopal episodes with ECG findings...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41572647
DOI: 10.1002/ajmga.70033

Genes

SCN5A

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 16 Oct 2026.

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